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Test Catalog
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| Type of Disorder: |
Epilepsy |
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| Typical Presentation: |
Febrile seizures, which are often prolonged or focal, and afebrile hemiclonic or generalized seizures in the first year of life. Patients usually develop other symptoms after age one, including myoclonic, absences, atonic, and partial seizures. |
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| Disease(s) tested for: |
Severe Myoclonic Epilepsy of Infancy (SMEI), Generalized Epilepsy with Febrile Seizures Plus (GEFS+) |
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| Test Details |
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| Test Code: |
537 |
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| Profiles that contain this test: |
Complete SCN1A Evaluation, Febrile Seizures Evaluation, Female Febrile Seizures Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects exonic deletions in the SCN1A gene |
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| Methodology: |
Multiplex-Ligation Probe Amplification |
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| Reference Value: |
No deletions detected |
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| Patents: |
7,723,027 |
| CPT Coding |
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The CPT codes provided are based on AMA guidelines
and are for informational purposes only. CPT coding
is the sole responsibility of the billing party.
Please direct any questions regarding coding to
the payer being billed.
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| Stacked CPT Code(s): |
83891(1), 83900(1), 83901(32), 83909(1), 83912(1), 83914(34)
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Do not freeze, refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing |
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| Test Turnaround: |
21-28 days |
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